Sally Ann Lynch
University College Dublin(IE)Alameda Health System(US)Children's Health Ireland at Crumlin(IE)Temple Street Children's University Hospital(IE)Highland Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Mutations in SOX2 cause anophthalmia(2003)539 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome(2004)339 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited